HOW DOES GENESCREEN WORK?
HOW DOES GENESCREEN WORK?
Unlike other carrier screening tests that use targeted sequencing, GeneScreen® performs full exon sequencing of all genes in the panel, allowing for a more comprehensive analysis of individual genes and their associated diseases. With its unique detection rate, it detects deletions in all analysed genes as well as in genes associated with commonly selected diseases.
The DNA isolated from peripheral blood is then amplified by PCR. The genes are fully sequenced (exons and adjacent intronic regions) by a state-of-the-art technological process called mass parallel sequencing (MPS) using Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers. Advanced bioinformatics solutions are used to test for the presence of potential mutations in the genes under investigation.
